Progressive supranuclear palsy-predominant parkinsonism syndrome
Synonyms: PSP-p · PSP-parkinsonism
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive supranuclear palsy-predominant parkinsonism syndrome | PSP-p · PSP-parkinsonism |
| fr | Syndrome de paralysie supranucléaire progressive-parkinsonisme prédominant | PSP-p · PSP-parkinsonisme |
| de | Progressive supranukleäre Blickparese-predominanter Parkinsonismus-Syndrom | PSP-P · PSP-Parkinsonismus |
| es | Síndrome de parálisis supranuclear progresiva-parkinsonismo predominante | PSP-p · PSP-parkinsonismo |
| it | Sindrome paralisi sopranucleare progressiva-parkinsonismo | PSP-p · PSP-parkinsonismo |
| nl | Progressieve supranucleaire paralyse - predominant parkinsonisme-syndroom | PSP-p · PSP-parkinsonisme · Progressieve supranucleaire verlamming - predominant parkinsonisme-syndroom |
| pt | Síndrome de paralisia supranuclear progressiva-parkinsonismo predominante | PSP-p · PSP-parkinsonismo |
| pl | Postępujące porażenie nadjądrowe - parkinsonizm | PSP-p · PSP-parkinsonizm · Zespół postępującego porażenia nadjądrowego z przewagą parkinsonizmu |
| cs | Syndrom zahrnující progresivní supranukleární obrnu a parkinsonismus | PSP-p · PSP s parkinsonismem |
| uk | Синдром прогресуючого надядерного паралічу з переважанням паркінсонізму | PSP-p · PSP-паркінсонізм |
| zh | 进行性核上性麻痹-帕金森综合征 | 进行性核上性麻痹-帕金森综合征 |
| tr | İlerleyici supranükleer palsi-parkinsonizm sendromu | PSP-p · PSP-parkinsonizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260540 | E | validated | |
| ICD-10 | G23.1 | NTBT | attributed | validated |
| ICD-11 | 8A00.10 | NTBT | index | validated |
| MONDO | 0009839 | E | validated | |
| UMLS | C5548370 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:99750Atypical progressive supranuclear palsy syndrome
rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:306666Rare parkinsonian syndrome due to neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAPT | Major susceptibility factor in | Assessed | HGNC:6893 | ENSG00000186868 | 157140 | 17q21.31 | microtubule associated protein tau |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2018-12-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | |
| HP:0002172 | Postural instability | |
| HP:0000511 | Vertical supranuclear gaze palsy | |
| Frequent (79-30%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0006921 | Axial muscle stiffness | |
| HP:0002067 | Bradykinesia | |
| HP:0000716 | Depression | |
| HP:0001332 | Dystonia | |
| HP:0002527 | Falls | |
| HP:0001268 | Mental deterioration | |
| HP:0002063 | Rigidity | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0000741 | Apathy | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0002354 | Memory impairment | |
| HP:0002068 | Neuromuscular dysphagia | |
| HP:0002098 | Respiratory distress | |
| Excluded (0%) | ||
| HP:0000739 | Anxiety | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 29037499[PMID]_12654952[PMID]_10388790[PMID]_16157753[PMID]_14595660[PMID]_12654952[PMID]_16278856[PMID]_16157754[PMID]_19458322[PMID]_11708994[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/240085
- This record as JSON: /data/d/240085.json